Matenda Fabry: zizindikiro, chithandizo, zithunzi

Matendawa amayamba ndi kupanda yofunika enzyme alpha-galactosidase A amatchedwa matenda Fabry, pambuyo wasayansi nawo mu phunziroli ndipo analitsegula. Kwa nthawi yoyamba ndi kusintha mu jini akhala anafotokoza mu 1989 ku England.

M'mikhalidwe wabwinobwino, enzyme izi alipo pafupifupi maselo onse a m'thupi ndipo zimafunika processing lipids. Anthu amene analandira jini zosalongosoka, pali buildup mafuta zinthu mu lysosomes lapansi. Potsilizira pake, matenda kuchiwonongeko maselo mtima khoma ndipo zimakhala. Fabry matenda - ndi chosowa majini matenda, amatchedwanso "matenda lysosomal yosungirako".

zizindikiro

matenda, monga kuonerera zachipatala, koyamba pa achikulire ndi ana mu chisanadze ndi kutha msinkhu.

Symptomatology matendawa ndi monga:

• Kutentha ndi soreness akuwuka mu malekezero, kukula ndi zofuna kukhetsa thukuta ndi kukhudzana ndi otentha. Ululu nthawi zambiri limodzi ndi states ndi thupi.
• Kufooka. Nthawi zambiri, zizindikiro izi limodzi ndi maganizo otsika, nkhawa, amakhala ndi nkhawa. Odwala kumva maganizo a kuwonongeka ndi kusadalira nzeru zawo, amene kwambiri kuchepetsa ubwino wa moyo.
• Utachepa thukuta.
• mapazi Kutopa ndi manja. Man, ndi chitukuko cha matenda, sangathe kugwira ngakhale zochita kwambiri wamba monga akukumana kutopa nthawi zonse. Zolumukizidwa ndi zomverera chowawa zizindikiro kotereku kumapangitsa kuti amalize pogwira.
• Proteinuria. Matenda, amagwirizana ndi kuchuluka mapuloteni excretion mu mkodzo. Nthawi zambiri chizindikiro chimayambitsa matenda pachithunzichi.
• totupa maphunziro ku matako, groin, milomo, zala.
• matenda Autonomic.

Pafupifupi gawo limodzi la ana pa nthawi yomweyo ndi zizindikiro zakumwamba kukhala syndrome olowa. zinachitikira mwana kukula ululu minofu, kuchepa masomphenya, kupanda zolimbitsa thupi. Pamene kupitilira a akusowa enzyme zimawonedwa matenda a impso, kuthamanga kwa magazi. Komabe ana a matenda amenewa ali osowa kwambiri, chifukwa ndi chofunika m'njira zonse kutsatira malo akatswiri mayesero magazi pa mlingo chibadwa.

Amene analandira matenda?

Anthu ambiri amadabwa mmene matenda Fabry kumaonekera, ndichiyani? Malinga ndi maphunziro, madokotala akhala mfundo zotsatirazi:

• Matendawa akhoza kuyamba munthu, kaya mwamuna kapena mkazi.
• Jini chimachititsa chitukuko cha matenda isanafalikire mu X-khromozomu. Amuna ndi mmodzi X-khromozomu, ndipo ngati lili jini akhudzidwa, mpata zizindikiro osauka kwambiri mkulu. Munthu akhoza kachilombo ana matenda, koma ana aakazi onse adzalandira chilema izi.
• Akazi awiri X-DNA, kotero Mwina kufalitsa matendawo kwa ana amuna kapena akazi 50/50%.
• Zizindikiro amayambira ku ubwana ndi unyamata ndi achinyamata.
• Jini zosalongosoka opezeka mu umodzi wa 12 000 kubereka moyo, kuti ali osowa.

matenda a matenda

matenda zolondola zimavuta chifukwa matenda ndi osowa ndipo ikusonyeza lonse osiyanasiyana zizindikiro matenda. Odwala matenda amaganiziridwa Fabry ziyesedwa mwa akatswiri m'madera osiyanasiyana matenda.

Othandiza chitsanzo chosonyeza kuti pakati zizindikiro koyamba ndi matenda komaliza pafupifupi zimatenga zaka pafupifupi 12. Nkofunika kukhazikitsa matenda mwamsanga kuti mankhwalawa.

wosamalira zaumoyo ayenera kuganiza kukhalapo kwa chotupa ichi chibadwa, ngati munthu wapeza osakaniza zizindikiro oposa awiri. Mu kukula kwa matenda Fabry (chithunzi asakhale ndi vutoli akhudzidwa chili m'munsimu), pafupifupi zimachokeradi, choncho matenda angathe kumva.

Matenda a matenda amuna

The zochitika zotsatirazi umachitika kwa amuna:

• Pedigree kusanthula mtengo wa mayina wotsatira makolo. Popeza chikhalidwe cholowa cha chotupa cha, ubwino waukulu ku matenda a magulu mbiri banja. Koma a banja limodzi matenda zikhale yosadziwika.
• Kafukufuku zomwe zili enzyme ndi galactosidase magazi.
• DNA kusanthula - ikuchitika vuto la zotsatira osokoneza kafukufuku amuzolengedwa. DNA angathe kumwedwa kwa chuma chilichonse kwachilengedwenso.

matenda Fabry: matenda a zotupa mu akazi

miyeso zotsatirazi zomwe zagwiridwa kwa jenda mkazi;

• Pedigree kusanthula.
• DNA kusanthula.
• The zili enzyme magazi si chizindikiro chachikulu cha matenda, amene amayamba ndi kutsegula wa asymmetric X-khromozomu. Izo zikhoza kukhala mu osiyanasiyana zachilendo, ngakhale ngati mkazi alipo matenda.

matenda akalandire chithandizo

Kafukufuku ndi kuyeza kuchuluka kwa enzyme mu zimakhala yoopsa. Zimenezi n'zofunika ngati mayi vuto ndi chibadwa, kapena pali kukayikirana kuti mwana ndilandire matenda Fabry. Zizindikiro za matendawa ndi pafupifupi kwina atabadwa ndi zimapezeka m'tsogolo.

zosokonezeka kuthekera

Ngati odwala sichimaperekedwa matenda, ndi matenda sangakhoze anachiritsidwa, nthawi zambiri, kukulitsa mavuto otsatirawa:

• Pachimake aimpso kulephera. Munthu nthawi zonse kutaya mapuloteni mu mkodzo, mwachitsanzo osauka proteinuria.
• Kusintha mawonekedwe ndi mtima. Akamalankhula wapezeka insufficiency kuli nthambi mtima, spasmodic chidule.
• Impairments magazi mu ubongo. Wodwalayo amakhala pafupipafupi chizungulire, vuto lalikulu chotenga matenda opha ziwalo.

chithandizo

Anthu amaganiziridwa ndi matenda Fabry zimatumizidwa malo apadera, kudera kumene kulibe zambiri zochizira matenda lysosomal yosungirako. Mu mabungwe anatsimikizira pamaso pa kudwala ndi zomwe zagwiridwa mankhwala oyenera.

Mpaka 2000s, ndi zofunika mfundo achire anali umalimbana kugonjetsa zinthu zoipa osauka kupitilira ya matenda. Pa nthawi, njira ina ntchito kuthandiza kuthetsa osati zizindikiro amene amayambitsa matenda Fabry. Chithandizo imakhala mankhwala enzyme m'malo. Odwala prescribers a Alpha, beta-galactosidase.

matenda Fabry (zizindikiro ndi kafukufuku amaloledwa kukhazikitsa matenda zolondola) umamumvera mankhwala mwamsanga. Iwo ikuchitika jekeseni, wodwala amalandira iwiri iliyonse. Njira imeneyi akhoza akuyendera mothandizidwa ndi namwino mu chipatala kapena kunyumba, ngati munthu ali bwino kulekerera kulowetsedwa. Chithandizo amalola matenda kagayidwe, kumatha zisadzachitikenso zizindikiro, kuteteza chitukuko cha matenda.

Mankhwala chachikulu ntchito M'MALO imatengedwa "Replagal." Yankho m'chipatala mu mbale ya 5 ml. Njira ali tolerability wabwino, mu nthawi zina pakutchulidwa mavuto: kuyabwa, kupweteka m'mimba, malungo.

Ngati matenda omwe amachititsa ululu, odwala Komanso anatumizidwa anticonvulsants, analgesics, si steroidal odana ndi yotupa wothandizira.

Akatswiri ambiri amakhulupirira kuti matenda lolondola ndi mankhwala a matenda Fabry amatha kusintha njira yachibadwa ya matenda. ntchito bwino M'MALO chithandizo chingaimitse chitukuko.

polojekiti zasayansi

Pa maziko kumene n'kofunika kuchita kachulukidwe mtima tseramidtrigeksozida. Mankhwala bwino ndende zake amachepetsa. Mu kafukufuku matenda, ntchito chizindikiro ndi mlingo wa sphingosine globotriaozil.

Majekeseni ndi osankhidwa pa mimba ndi mkaka wa m'mawere, ngati mkazi palibe matenda ena kuti angabweretse kuwononga moyo.

zotsatira

Fabry matenda - lalikulu matenda majini limodzi ndi ululu, akuchuluka khalidwe la moyo ndi wotitsogolera kwa kuswa mphamvu malamulo. A ambiri odwala simulandira chithandizo Chotero sanathe mogwira ntchito, kuphunzira, amadandaula tanthauzo la kukhumudwa, kutopa, kuvutika maganizo, nkhawa.

Popereka zizindikiro mwina ziwonjezeka tsiku mu chitukuko cha matenda, ndipo moyo amayembekezeka okhudzidwa ndi izo, ndi avareji zaka 15 poyerekeza wa zikuluzikulu za. Koma matenda Fabry - si chilango cha imfa, ndi matenda, anapereka m'malo mankhwala, kungachititse moyo wathunthu.